Incidental Mutation 'R5836:Ptpn12'
ID |
449582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn12
|
Ensembl Gene |
ENSMUSG00000028771 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 12 |
Synonyms |
PTP-PEST, PTP-P19, P19-PTP |
MMRRC Submission |
043222-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5836 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 21214544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 197
(W197*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
AlphaFold |
P35831 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030556
AA Change: W197*
|
SMART Domains |
Protein: ENSMUSP00000030556 Gene: ENSMUSG00000028771 AA Change: W197*
Domain | Start | End | E-Value | Type |
PTPc
|
27 |
295 |
2.14e-126 |
SMART |
Blast:PTPc
|
338 |
399 |
7e-12 |
BLAST |
low complexity region
|
499 |
518 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
low complexity region
|
622 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126853
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199774
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
T |
17: 36,272,918 (GRCm39) |
A243D |
possibly damaging |
Het |
Azin2 |
C |
T |
4: 128,842,670 (GRCm39) |
G128D |
probably damaging |
Het |
Babam1 |
A |
G |
8: 71,855,687 (GRCm39) |
E260G |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,865,958 (GRCm39) |
S275T |
probably damaging |
Het |
Cd8a |
T |
C |
6: 71,350,775 (GRCm39) |
V80A |
possibly damaging |
Het |
Clec4a3 |
T |
C |
6: 122,929,861 (GRCm39) |
F12S |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,140,552 (GRCm39) |
S225T |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,383,738 (GRCm39) |
N2987H |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,918,763 (GRCm39) |
F78S |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,918,659 (GRCm39) |
T885A |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,662,817 (GRCm39) |
V145A |
probably benign |
Het |
Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,229,882 (GRCm39) |
S758G |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,423,617 (GRCm39) |
L538Q |
probably damaging |
Het |
Ikzf2 |
A |
G |
1: 69,578,546 (GRCm39) |
I176T |
probably damaging |
Het |
Lrp3 |
A |
G |
7: 34,902,747 (GRCm39) |
V533A |
probably damaging |
Het |
Nkx2-5 |
A |
T |
17: 27,058,063 (GRCm39) |
V297E |
possibly damaging |
Het |
Or13a19 |
G |
A |
7: 139,902,827 (GRCm39) |
V72I |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,353 (GRCm39) |
L225P |
probably damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,918 (GRCm39) |
T15A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,324,435 (GRCm39) |
W97R |
possibly damaging |
Het |
Plekha5 |
T |
C |
6: 140,372,250 (GRCm39) |
Y67H |
probably damaging |
Het |
Plin5 |
A |
T |
17: 56,422,549 (GRCm39) |
|
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Prickle1 |
T |
A |
15: 93,400,898 (GRCm39) |
K529* |
probably null |
Het |
Ptbp2 |
G |
A |
3: 119,519,746 (GRCm39) |
T107I |
probably damaging |
Het |
Rhobtb1 |
T |
C |
10: 69,105,819 (GRCm39) |
V128A |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,618,618 (GRCm39) |
T3866A |
probably damaging |
Het |
Serpina3m |
T |
C |
12: 104,355,509 (GRCm39) |
Y59H |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,172,343 (GRCm39) |
V414A |
possibly damaging |
Het |
Slc34a1 |
T |
C |
13: 55,561,278 (GRCm39) |
M581T |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,515,040 (GRCm39) |
Y596C |
probably damaging |
Het |
Stoml1 |
T |
C |
9: 58,168,123 (GRCm39) |
L278P |
probably benign |
Het |
Tecpr2 |
C |
T |
12: 110,897,945 (GRCm39) |
A399V |
possibly damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,016 (GRCm39) |
E246G |
probably damaging |
Het |
Vmn1r224 |
A |
T |
17: 20,639,953 (GRCm39) |
I177L |
probably benign |
Het |
Zswim5 |
C |
T |
4: 116,842,000 (GRCm39) |
T860I |
probably benign |
Het |
|
Other mutations in Ptpn12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Ptpn12
|
APN |
5 |
21,234,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00226:Ptpn12
|
APN |
5 |
21,203,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01432:Ptpn12
|
APN |
5 |
21,203,553 (GRCm39) |
nonsense |
probably null |
|
IGL02285:Ptpn12
|
APN |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02488:Ptpn12
|
APN |
5 |
21,227,060 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02550:Ptpn12
|
APN |
5 |
21,203,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02640:Ptpn12
|
APN |
5 |
21,224,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Ptpn12
|
APN |
5 |
21,207,435 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03130:Ptpn12
|
APN |
5 |
21,207,610 (GRCm39) |
unclassified |
probably benign |
|
R0531:Ptpn12
|
UTSW |
5 |
21,203,481 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0948:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R1018:Ptpn12
|
UTSW |
5 |
21,234,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1184:Ptpn12
|
UTSW |
5 |
21,203,354 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1699:Ptpn12
|
UTSW |
5 |
21,203,168 (GRCm39) |
missense |
probably benign |
0.01 |
R1938:Ptpn12
|
UTSW |
5 |
21,198,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Ptpn12
|
UTSW |
5 |
21,203,308 (GRCm39) |
missense |
probably benign |
0.34 |
R2152:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Ptpn12
|
UTSW |
5 |
21,203,409 (GRCm39) |
missense |
probably damaging |
0.98 |
R2358:Ptpn12
|
UTSW |
5 |
21,203,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ptpn12
|
UTSW |
5 |
21,194,047 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3931:Ptpn12
|
UTSW |
5 |
21,206,321 (GRCm39) |
missense |
probably benign |
0.00 |
R4013:Ptpn12
|
UTSW |
5 |
21,197,741 (GRCm39) |
missense |
probably benign |
0.05 |
R4039:Ptpn12
|
UTSW |
5 |
21,207,508 (GRCm39) |
nonsense |
probably null |
|
R4501:Ptpn12
|
UTSW |
5 |
21,224,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Ptpn12
|
UTSW |
5 |
21,210,383 (GRCm39) |
nonsense |
probably null |
|
R4754:Ptpn12
|
UTSW |
5 |
21,203,587 (GRCm39) |
missense |
probably benign |
0.34 |
R4963:Ptpn12
|
UTSW |
5 |
21,220,706 (GRCm39) |
splice site |
probably null |
|
R5160:Ptpn12
|
UTSW |
5 |
21,202,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5581:Ptpn12
|
UTSW |
5 |
21,220,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Ptpn12
|
UTSW |
5 |
21,194,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6383:Ptpn12
|
UTSW |
5 |
21,192,466 (GRCm39) |
nonsense |
probably null |
|
R6883:Ptpn12
|
UTSW |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
R7544:Ptpn12
|
UTSW |
5 |
21,214,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7885:Ptpn12
|
UTSW |
5 |
21,203,523 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7915:Ptpn12
|
UTSW |
5 |
21,214,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Ptpn12
|
UTSW |
5 |
21,260,687 (GRCm39) |
missense |
probably benign |
0.01 |
R7976:Ptpn12
|
UTSW |
5 |
21,207,631 (GRCm39) |
nonsense |
probably null |
|
R8032:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R8224:Ptpn12
|
UTSW |
5 |
21,203,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R8473:Ptpn12
|
UTSW |
5 |
21,203,357 (GRCm39) |
missense |
probably benign |
0.00 |
R8823:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9375:Ptpn12
|
UTSW |
5 |
21,224,212 (GRCm39) |
missense |
probably benign |
0.21 |
R9613:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9707:Ptpn12
|
UTSW |
5 |
21,207,620 (GRCm39) |
missense |
probably damaging |
0.99 |
X0004:Ptpn12
|
UTSW |
5 |
21,224,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGTCTTATTCTCAAACACAC -3'
(R):5'- GACGTGGAATACATAGCTTACAAG -3'
Sequencing Primer
(F):5'- CACACCATAACAGGGCTAGG -3'
(R):5'- GTCTTCAGACACACCGGTAGAG -3'
|
Posted On |
2016-12-20 |